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  2. Hydrocephalus_Ventriculomegaly
  3. WDR91
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Hydrocephalus_Ventriculomegaly

Gene: WDR91

Amber List (moderate evidence)
WDR91 (WD repeat domain 91)
EnsemblGeneIds (GRCh38): ENSG00000105875
EnsemblGeneIds (GRCh37): ENSG00000105875
OMIM: 616303, Gene2Phenotype
WDR91 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents.

Mouse models support role in brain development.
Sources: Literature
Created: 11 Jun 2021, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus; cerebellar hypoplasia; hygroma

Publications

Created: 11 Jun 2021, 7:38 a.m.

Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hydrocephalus
  • cerebellar hypoplasia
  • hygroma
OMIM
616303
Clinvar variants
Variants in WDR91
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr91 has been classified as Amber List (Moderate Evidence).

11 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr91 has been classified as Amber List (Moderate Evidence).

11 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR91 was added gene: WDR91 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 34028500; 28860274; 32732226 Phenotypes for gene: WDR91 were set to Hydrocephalus; cerebellar hypoplasia; hygroma Review for gene: WDR91 was set to AMBER